Acute Bacterial Pyomyositis with Multiple Small Abscesses in a Diabetic Patient
Korean Journal of Neuromuscular Disorders.2023;15(2):54-56. doi:10.46518/kjnmd.2023.15.2.54
Korean Journal of Neuromuscular Disorders
2002 (v1, n1) to Present ISSN: 1671-8925
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Korean Journal of Neuromuscular Disorders.2023;15(2):57-59. doi:10.46518/kjnmd.2023.15.2.57
Diagnosis and Treatment of Bell’s Palsy
Korean Journal of Neuromuscular Disorders.2023;15(2):36-41. doi:10.46518/kjnmd.2023.15.2.36
Bell's palsy is one of the most common outpatient problems in neurologic clinics. The diagnosis of Bell's palsy is typically made through clinical evaluation. Characteristic findings include the acute onset of unilateral lower motor neuron facial paralysis, reaching its peak within 72 hours. However, there are numerous diagnostic pitfalls related to the differential diagnosis, including neoplasms, autoimmune disorders, trauma, and infections. For an accurate diagnosis, recognizing the anatomical background and identifying atypical clinical features of Bell's palsy is crucial. Oral steroids are considered the optimal treatment, and antiviral agents may play a beneficial role. Even without treatment, the prognosis for Bell's palsy is generally favorable, but long-standing sequelae are also possible and should be considered for functional, aesthetic, and psychological aspects.
Gene Therapy for Genetic Muscle Diseases
Korean Journal of Neuromuscular Disorders.2023;15(2):31-35. doi:10.46518/kjnmd.2023.15.2.31
Genetic muscle diseases encompass a group of conditions where genetic alterations affect skeletal muscles, leading to muscle weakness and hypotonia. Presently, the focus of treatment is on managing symptoms rather than addressing the root cause of the disease. However, recent advancements in gene therapy offer potential cure for these diseases, with over 180 genes identified as contributing factors. Encouraging results have emerged from preclinical trials conducted using animal models, prompting the initiation of several clinical trials aimed at assessing the safety and efficacy of gene therapy in human patients. In this review, we aim to provide an overview of the fundamental concept of gene therapy and discuss ongoing clinical trials that hold promise for curing genetic muscle diseases.
A Case Report of Leprosy Presenting as Multiple Mononeuropathy with Hypoesthesia
Korean Journal of Neuromuscular Disorders.2023;15(2):50-53. doi:10.46518/kjnmd.2023.15.2.50
Leprosy is a chronic infectious disease caused by Mycobacterium leprae. It can lead to damage of the nerve. Although the incidence of leprosy is very low in South Korea, a large number of people are immigrating to South Korea from countries with a high prevalence of leprosy. We report a case of leprosy confirmed by nerve biopsy. The patient was from Nepal who presented with progressive and asymmetric sensory loss. Leprosy can be considered as a differential diagnosis in patients with progressive and asymmetric sensory loss, especially when patients are from leprosy endemic countries.
Invasive Aspergillosis Mimicking Tolosa-Hunt Syndrome: A Case Report
Korean Journal of Neuromuscular Disorders.2023;15(2):46-49. doi:10.46518/kjnmd.2023.15.2.46
Invasive fungal infection remains a major cause of morbidity and mortality in immunocompromised patients. Invasive fungal sinusitis can present as a Tolosa-Hunt syndrome (THS) or orbital apex, leading to frequent misdiagnosis. Accurate diagnosis of fungal infection invading the cavernous sinus or orbital apex is essential to reduce mortality through early antifungal treatment and reduce the risk of worsening with steroid treatment due to misdiagnosis of THS. Herein, we report a case of invasive fungal sinusitis mimicking THS.
Korean Journal of Neuromuscular Disorders.2023;15(2):42-45. doi:10.46518/kjnmd.2023.15.2.42
Background:
The younger generation in Korea easily exposed to nitrous oxide (N2O) under the name “Happy Balloon” may abuse it. N2O can irreversibly oxidize vitamin B12 and cause abnormal hematopoiesis or nervous system toxicity such as subacute combined degeneration (SCD). The objective of this study was to assist in early diagnosis of N2O-induced SCD of spinal cord by characterizing its clinical manifestations.
Methods:
Four patients with myelopathy after abusing N2O were enrolled. To characterize N2O-induced myelopathy, previously reported cases of N2O-induced SCD were searched through PubMed and KoreaMed. Collected cases and our four patients were analyzed.
Results:
A total of 30 patients with N2O-induced myelopathy (26 males and 4 females with mean age of 24 years) were analyzed. These patients took a median dose of 650 canisters for a median duration of 3.5 months. All patients presented sensory disturbances, which involved the lower extremities more frequently (100%) than the upper extremities (63.3%). Gait ataxia (76.7%), weakness in the upper (23.3%) and lower (36.7%) extremities, bladder symptoms (26.7%), Rhomberg sign (43.3%), and Lhermitte’s phenomenon (10.0%) were observed. Serum vitamin B12 levels were decreased in many (63.3%) patients and homocysteine levels were elevated in all. Of 20 patients who underwent magnetic resonance imaging (MRI) of the spine, 19 had abnormal findings. Three patients presented with contrast enhancement in lesions.
Conclusions
We strongly recommend that history of N2O abuse should be asked for young patients with suspected myelopathy, especially those presenting with gait ataxia and sensory disturbances suggesting posterior column dysfunction and those presenting long-segment lesion involving the upper cervical cord on MRI.
Limb-Girdle Type Myasthenia Gravis Diagnosed with Invasive Thymic Carcinoma
Korean Journal of Neuromuscular Disorders.2023;15(1):28-30. doi:10.46518/kjnmd.2023.15.1.28
Probable Kennedy Disease Mimicking Hirayama Disease: A Case Report
Korean Journal of Neuromuscular Disorders.2023;15(1):24-27. doi:10.46518/kjnmd.2023.15.1.24
Spinal and bulbar muscular atrophy (Kennedy disease) is an X-linked, adult-onset motor neuron disease characterized by slow, progressive weakness of the bulbar and extremity muscles with CAG triplet repeat expansion in the androgen receptor gene. Hirayama disease (HD) is characterized by the juvenile onset of asymmetric weakness and amyotrophy of the hand and is most common in males in Asia. We report a patient with atypical Kennedy disease presenting with asymmetric hand weakness and atrophy typical of HD.
Evolving Diagnostic Criteria in Amyotrophic Lateral Sclerosis and Its Differential Diagnosis
Korean Journal of Neuromuscular Disorders.2023;15(1):18-23. doi:10.46518/kjnmd.2023.15.1.18
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of upper motor neurons in the brainstem and spinal cord and lower motor neurons. ALS was first described by Jean-Martin Charcot in 1874 based on clinical features and postmortem examinations. In 1990, the first diagnostic criteria for ALS were developed based on clinical features. Subsequently, three additional diagnostic criteria were published. In this article, we introduce the clinical features, diagnostic criteria, and diseases that need to be differentiated in ALS.
Country
Republic of Korea
Publisher
The Korean Society of Neuromuscular Disorders
ElectronicLinks
http://knmd.or.krEditor-in-chief
Kweon, Ohyun
knmd1594@daum.net
Abbreviation
Korean J Neuromuscul Disord
Vernacular Journal Title
대한신경근육질환학회지
ISSN
2093-3312
EISSN
Year Approved
2019
Current Indexing Status
Currently Indexed
Start Year
2009
Description
Korean Journal of Neuromuscular Disorders is the official journal of the Korean Society of Neuromuscular Disorder publishing scientific and creative research papers in the field of neuromuscular disorders and related subjects
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